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| CAKUT v1.147 | ROR2 | Sarah Leigh Added comment: Comment on mode of inheritance: Based on Gen2Phen confirmed rating of disease association including hydronephrosis in Robinow syndrome autosomal dominant and in ROR2-related disorders autosomal recessive. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.147 | ROR2 | Sarah Leigh Mode of inheritance for gene: ROR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.146 | ROR2 |
Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene, where hydronephrosis is reported in Robinow syndrome autosomal dominant and in ROR2-related disorders autosomal recessive. At least 8 variants reported have been reported in Robinow syndrome recessive in the literature (PMID 10932187;19640924;18831060), however, renal anomolies were only reported in one case (PMID 15952209).; to: Comment on list classification: Associated with relevant phenotype in OMIM and as Confirmed Gen2Phen gene, where hydronephrosis is reported in Robinow syndrome autosomal dominant and in ROR2-related disorders autosomal recessive. At least 8 variants reported have been reported in Robinow syndrome, autosomal recessive 268310 in the literature (PMID 10932187;19640924;18831060), however, renal anomolies were only reported in one case (PMID 15952209). Green rating is based on Expert review by Zornitza Stark that ~10% of cases of Robinow syndrome, autosomal recessive 268310 have renal abnormalities and because of the Confirmed Gen2Phen rating. |
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| CAKUT v1.146 | ROR2 | Sarah Leigh Classified gene: ROR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.146 | ROR2 | Sarah Leigh Gene: ror2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.145 | ROR2 | Sarah Leigh Classified gene: ROR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.145 | ROR2 | Sarah Leigh Gene: ror2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.144 | ROR2 | Sarah Leigh Classified gene: ROR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.144 | ROR2 | Sarah Leigh Gene: ror2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.143 | ROR2 | Sarah Leigh Classified gene: ROR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.143 | ROR2 |
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene, where hydronephrosis is reported in Robinow syndrome autosomal dominant and in ROR2-related disorders autosomal recessive. At least 8 variants reported have been reported in Robinow syndrome recessive in the literature (PMID 10932187;19640924;18831060), however, renal anomolies were only reported in one case (PMID 15952209). |
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| CAKUT v1.143 | ROR2 | Sarah Leigh Gene: ror2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.142 | ROR2 | Sarah Leigh Publications for gene: ROR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.141 | ROR2 | Sarah Leigh Phenotypes for gene: ROR2 were changed from Robinow syndrome, autosomal recessive, MIM# 268310 to Robinow syndrome, autosomal recessive 268310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | ROR2 |
Zornitza Stark gene: ROR2 was added gene: ROR2 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, MIM# 268310 Review for gene: ROR2 was set to GREEN gene: ROR2 was marked as current diagnostic Added comment: Although genital abnormalities are a characteristic feature, renal abnormalities described in ~10% Sources: Expert list |
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